A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17359582



Internal ID22585251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25163258..25169135hg38UCSC Ensembl
chr12:25316192..25322069hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg385878
hg195878
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5913131
Supporting Variants
Samples
Known GenesCASC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17359582
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer